A2T (p.Ala2Thr) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A2T (p.Ala2Thr) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD rs1277037321
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.15
- CADD 8.82
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available