S88R (p.Ser88Arg) variant of KRT1 (Keratin, type II cytoskeletal 1)
S88R (p.Ser88Arg) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S88R (p.Ser88Arg) variant details
- p.Ser88Arg
- gnomAD rs1442864499
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.22
- CADD 1.92
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available