A10S (p.Ala10Ser) variant of ITGB4 (Integrin beta-4)
A10S (p.Ala10Ser) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- gnomAD rs2060684197
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.08
- CADD 14.30
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available