P35T (p.Pro35Thr) variant of MCCC2 (Q9HCC0)
P35T (p.Pro35Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P35T (p.Pro35Thr) variant details
- p.Pro35Thr
- rs767675836
- ClinGen CA360002287
- ClinVar RCV002304505
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.16
- CADD 5.59
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available