V5I (p.Val5Ile) variant of SDHB (P21912)
V5I (p.Val5Ile) in SDHB (P21912) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- gnomAD rs962717797
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.30
- AlphaMissense 0.15
- MetaLR 0.82
- MetaSVM 0.46
- CADD 18.10
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available