L60M (p.Leu60Met) variant of KRT3 (Keratin, type II cytoskeletal 3)
L60M (p.Leu60Met) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L60M (p.Leu60Met) variant details
- p.Leu60Met
- Ensembl rs1565679806
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.37
- CADD 21.90
- PolyPhen-2 0.26
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available