T6A (p.Thr6Ala) variant of KRT6B (Keratin, type II cytoskeletal 6B)
T6A (p.Thr6Ala) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- ExAC rs752271878
- gnomAD rs752271878
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.01
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available