N26K (p.Asn26Lys) variant of SDHC (Q99643)
N26K (p.Asn26Lys) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N26K (p.Asn26Lys) variant details
- p.Asn26Lys
- gnomAD 1-161328396-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.34
- MetaLR 0.72
- MetaSVM 0.32
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available