A100V (p.Ala100Val) variant of KRT16 (Keratin, type I cytoskeletal 16)
A100V (p.Ala100Val) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- ExAC rs140537366
- TOPMed rs140537366
- gnomAD rs140537366
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.18
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available