Y24C (p.Tyr24Cys) variant of KRT18 (Keratin, type I cytoskeletal 18)
Y24C (p.Tyr24Cys) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- 1000Genomes rs1307456366
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.12
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available