S34N (p.Ser34Asn) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S34N (p.Ser34Asn) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S34N (p.Ser34Asn) variant details
- p.Ser34Asn
- 1000Genomes rs555709018
- ExAC rs555709018
- TOPMed rs555709018
- gnomAD rs555709018
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available