S75P (p.Ser75Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
S75P (p.Ser75Pro) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S75P (p.Ser75Pro) variant details
- p.Ser75Pro
- TOPMed rs1283483642
- gnomAD rs1283483642
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.34
- CADD 22.80
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available