I31T (p.Ile31Thr) variant of SDHD (O14521)
I31T (p.Ile31Thr) in SDHD (O14521) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I31T (p.Ile31Thr) variant details
- p.Ile31Thr
- gnomAD 11-112087896-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.57
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available