P148S (p.Pro148Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
P148S (p.Pro148Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P148S (p.Pro148Ser) variant details
- p.Pro148Ser
- TOPMed rs1294981109
- gnomAD rs1294981109
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available