G15V (p.Gly15Val) variant of SDHD (O14521)
G15V (p.Gly15Val) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD 11-112086951-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.50
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available