L21V (p.Leu21Val) variant of SDHAF2 (Q9NX18)
L21V (p.Leu21Val) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 11-61437649-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.10
- MetaLR 0.35
- MetaSVM -0.69
- CADD 8.29
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available