N62S (p.Asn62Ser) variant of GJB2 (Gap junction beta-2 protein)
N62S (p.Asn62Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- gnomAD rs1279221857
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.51
- MetaLR 0.93
- MetaSVM 1.08
- CADD 18.70
- PolyPhen-2 0.18
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available