L43P (p.Leu43Pro) variant of KRT10 (Keratin, type I cytoskeletal 10)
L43P (p.Leu43Pro) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- ExAC rs748594551
- gnomAD rs748594551
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.23
- CADD 9.20
- PolyPhen-2 0.20
- SIFT 0.13
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)