G104V (p.Gly104Val) variant of KRT16 (Keratin, type I cytoskeletal 16)
G104V (p.Gly104Val) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. 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.
G104V (p.Gly104Val) variant details
- p.Gly104Val
- gnomAD rs1177405639
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.18
- CADD 0.16
- PolyPhen-2 0.07
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available