V35G (p.Val35Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
V35G (p.Val35Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V35G (p.Val35Gly) variant details
- p.Val35Gly
- gnomAD 12-52949277-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available