V63L (p.Val63Leu) variant of ETFA (P13804)
V63L (p.Val63Leu) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V63L (p.Val63Leu) variant details
- p.Val63Leu
- rs2543032637
- ClinGen CA393517468
- ClinVar RCV003334182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 29.30
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available