T5S (p.Thr5Ser) variant of SDHAF2 (Q9NX18)
T5S (p.Thr5Ser) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- gnomAD 11-61430159-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.88
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available