A89S (p.Ala89Ser) variant of KRT5 (Keratin, type II cytoskeletal 5)
A89S (p.Ala89Ser) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A89S (p.Ala89Ser) variant details
- p.Ala89Ser
- TOPMed rs1207950244
- gnomAD rs1207950244
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.06
- CADD 6.59
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available