A49T (p.Ala49Thr) variant of KRT3 (Keratin, type II cytoskeletal 3)
A49T (p.Ala49Thr) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- gnomAD rs1380786929
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.17
- CADD 9.46
- PolyPhen-2 0.11
- SIFT 0.36
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available