I46R (p.Ile46Arg) variant of SDHC (Q99643)
I46R (p.Ile46Arg) in SDHC (Q99643) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I46R (p.Ile46Arg) variant details
- p.Ile46Arg
- gnomAD 1-161328455-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.26
- MetaLR 0.48
- MetaSVM -0.62
- CADD 3.22
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available