T5R (p.Thr5Arg) variant of SDHAF2 (Q9NX18)
T5R (p.Thr5Arg) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T5R (p.Thr5Arg) variant details
- p.Thr5Arg
- gnomAD 11-61430160-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.25
- MetaLR 0.35
- MetaSVM -0.82
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available