P29T (p.Pro29Thr) variant of SDHC (Q99643)
P29T (p.Pro29Thr) 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.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- gnomAD 1-161328403-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.71
- MetaLR 0.90
- MetaSVM 0.92
- CADD 25.10
- PolyPhen-2 0.91
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available