A83V (p.Ala83Val) variant of ETFB (P38117)
A83V (p.Ala83Val) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- gnomAD 19-51353259-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.85
- CADD 25.20
- PolyPhen-2 0.35
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available