A100T (p.Ala100Thr) variant of KRT16 (Keratin, type I cytoskeletal 16)
A100T (p.Ala100Thr) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A100T (p.Ala100Thr) variant details
- p.Ala100Thr
- Ensembl rs1214652519
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.09
- CADD 11.30
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available