L64M (p.Leu64Met) variant of KRT6B (Keratin, type II cytoskeletal 6B)
L64M (p.Leu64Met) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
L64M (p.Leu64Met) variant details
- p.Leu64Met
- TOPMed rs1329443992
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- REVEL 0.04
- CADD 10.70
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available