S30T (p.Ser30Thr) variant of SDHAF2 (Q9NX18)
S30T (p.Ser30Thr) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S30T (p.Ser30Thr) variant details
- p.Ser30Thr
- gnomAD rs1312756692
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.13
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.94
- CADD 10.80
- PolyPhen-2 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available