S14G (p.Ser14Gly) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S14G (p.Ser14Gly) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- ExAC rs752862612
- TOPMed rs752862612
- gnomAD rs752862612
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available