L14V (p.Leu14Val) variant of SDHC (Q99643)
L14V (p.Leu14Val) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 1-161323633-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.68
- MetaLR 0.90
- MetaSVM 1.01
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available