T7N (p.Thr7Asn) variant of KRT6A (Keratin, type II cytoskeletal 6A)
T7N (p.Thr7Asn) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- ExAC rs757757524
- gnomAD rs757757524
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.04
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available