L65V (p.Leu65Val) variant of KRT14 (Keratin, type I cytoskeletal 14)
L65V (p.Leu65Val) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L65V (p.Leu65Val) variant details
- p.Leu65Val
- 1000Genomes rs3826551
- ESP rs3826551
- ExAC rs3826551
- TOPMed rs3826551
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.24
- CADD 2.01
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available