V46A (p.Val46Ala) variant of SDHD (O14521)
V46A (p.Val46Ala) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- 1000Genomes rs2135267375
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.54
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.29
- CADD 9.29
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available