A38V (p.Ala38Val) variant of CACNA1E (Q15878)
A38V (p.Ala38Val) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs971589755
- ClinGen CA34178246
- ClinVar RCV002000828
- TOPMed rs971589755
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.34
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available