S42P (p.Ser42Pro) variant of KRT10 (Keratin, type I cytoskeletal 10)
S42P (p.Ser42Pro) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- TOPMed rs1267227135
- gnomAD rs1267227135
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.36
- CADD 25.50
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)