S12N (p.Ser12Asn) variant of SDHA (P31040)
S12N (p.Ser12Asn) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- gnomAD 5-218390-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.04
- CADD 7.25
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available