A2T (p.Ala2Thr) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A2T (p.Ala2Thr) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1229026357
- gnomAD rs1229026357
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.22
- CADD 8.09
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available