S71R (p.Ser71Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
S71R (p.Ser71Arg) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- TOPMed rs1002990848
- gnomAD rs1002990848
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 25.00
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)