A11V (p.Ala11Val) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
A11V (p.Ala11Val) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- ExAC rs745738187
- gnomAD rs745738187
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.53
- Population evidence available
- Structural context available