P99L (p.Pro99Leu) variant of KRT4 (Keratin, type II cytoskeletal 4)
P99L (p.Pro99Leu) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P99L (p.Pro99Leu) variant details
- p.Pro99Leu
- TOPMed rs1939954801
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.22
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available