V2L (p.Val2Leu) variant of MYO7A (Unconventional myosin-VIIa)
V2L (p.Val2Leu) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- TOPMed rs1157203537
- gnomAD rs1157203537
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.56
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available