D42D (p.Asp42Asp) variant of SDHAF2 (Q9NX18)
D42D (p.Asp42Asp) in SDHAF2 (Q9NX18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs1590764790
- gnomAD 11-61437714-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 9.76
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available