A32S (p.Ala32Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
A32S (p.Ala32Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- cosmic curated COSV66315
- gnomAD rs74953757
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available