S27I (p.Ser27Ile) variant of SDHAF2 (Q9NX18)
S27I (p.Ser27Ile) in SDHAF2 (Q9NX18) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- ExAC rs759472787
- TOPMed rs759472787
- gnomAD rs759472787
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.09
- MetaLR 0.32
- MetaSVM -0.80
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available