S9P (p.Ser9Pro) variant of KRT1 (Keratin, type II cytoskeletal 1)
S9P (p.Ser9Pro) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- TOPMed rs1469267818
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.65
- SIFT 0.16
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available