V129L (p.Val129Leu) variant of KRT6A (Keratin, type II cytoskeletal 6A)
V129L (p.Val129Leu) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V129L (p.Val129Leu) variant details
- p.Val129Leu
- TOPMed rs1358014273
- gnomAD rs1358014273
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.42
- CADD 21.70
- PolyPhen-2 0.78
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available