T33R (p.Thr33Arg) variant of SDHC (Q99643)
T33R (p.Thr33Arg) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T33R (p.Thr33Arg) variant details
- p.Thr33Arg
- gnomAD 1-161328416-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.71
- MetaLR 0.92
- MetaSVM 1.03
- CADD 27.40
- PolyPhen-2 0.60
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available