A2A (p.Ala2Ala) variant of SDHAF2 (Q9NX18)
A2A (p.Ala2Ala) in SDHAF2 (Q9NX18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs747571875
- gnomAD 11-61430152-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.43
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available