S11P (p.Ser11Pro) variant of SDHAF2 (Q9NX18)
S11P (p.Ser11Pro) in SDHAF2 (Q9NX18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- gnomAD 11-61430177-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.15
- MetaLR 0.22
- MetaSVM -0.98
- CADD 2.74
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available