V70L (p.Val70Leu) variant of KRT3 (Keratin, type II cytoskeletal 3)
V70L (p.Val70Leu) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- 1000Genomes rs150657845
- ESP rs150657845
- ExAC rs150657845
- TOPMed rs150657845
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.33
- CADD 12.00
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available