R13P (p.Arg13Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
R13P (p.Arg13Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R13P (p.Arg13Pro) variant details
- p.Arg13Pro
- ExAC rs765618473
- TOPMed rs765618473
- gnomAD rs765618473
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.14
- CADD 8.69
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available