R36T (p.Arg36Thr) variant of SDHAF2 (Q9NX18)
R36T (p.Arg36Thr) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R36T (p.Arg36Thr) variant details
- p.Arg36Thr
- gnomAD 11-61437695-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.38
- MetaLR 0.34
- MetaSVM -0.54
- CADD 24.00
- PolyPhen-2 0.12
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available