V50A (p.Val50Ala) variant of CACNA1D (Q01668)
V50A (p.Val50Ala) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aldosterone-producing adenoma with seizures and neurological abnormalities; Sino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- rs935163999
- ClinGen CA75053229
- ClinVar RCV001916865
- ClinVar RCV002479436
- Uncertain significance
- Aldosterone-producing adenoma with seizures and neurological abnormalities; Sino
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.42
- MetaLR 0.61
- MetaSVM -0.21
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Aldosterone-producing adenoma with seizures and neurological abn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available