S88G (p.Ser88Gly) variant of KRT1 (Keratin, type II cytoskeletal 1)
S88G (p.Ser88Gly) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S88G (p.Ser88Gly) variant details
- p.Ser88Gly
- TOPMed rs1941564164
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.35
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available