S5P (p.Ser5Pro) variant of KRT5 (Keratin, type II cytoskeletal 5)
S5P (p.Ser5Pro) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD rs1267266121
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.14
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available