A33V (p.Ala33Val) variant of SDHD (O14521)
A33V (p.Ala33Val) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs1566692246
- ClinGen CA382616990
- ClinVar RCV000760072
- Ensembl rs1566692246
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.11
- MetaLR 0.67
- MetaSVM 0.17
- PolyPhen-2 0.00
- SIFT 0.10
- EVE 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available