N31S (p.Asn31Ser) variant of MALT1 (Q9UDY8)
N31S (p.Asn31Ser) in MALT1 (Q9UDY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified; Combined immunodeficiency due to MALT1 d. 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.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- rs888829305
- ClinGen CA300934671
- ClinVar RCV001844640
- ClinVar RCV002034731
- Uncertain significance
- Inborn genetic diseases; not specified; Combined immunodeficiency due to MALT1 d
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; Combined immunodeficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0005)
- 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)