P148R (p.Pro148Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
P148R (p.Pro148Arg) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P148R (p.Pro148Arg) variant details
- p.Pro148Arg
- gnomAD rs1428376674
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available