S30R (p.Ser30Arg) variant of KRT18 (Keratin, type I cytoskeletal 18)
S30R (p.Ser30Arg) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- gnomAD 12-52949261-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.69
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.11
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available