P20S (p.Pro20Ser) variant of MCCC2 (Q9HCC0)
P20S (p.Pro20Ser) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency; Inborn genetic diseases; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- rs371336335
- ClinGen CA3297656
- cosmic curated COSV60155
- ClinVar RCV001154159
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 2 deficiency; Inborn genetic diseases; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.22
- CADD 6.25
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 2 deficiency; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00028)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)