G31V (p.Gly31Val) variant of CACNA1B (Q00975)
G31V (p.Gly31Val) in CACNA1B (Q00975) 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 0.39 / 1. The record also includes population frequency data and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- rs201253748
- ClinGen CA5375613
- cosmic curated COSV53138
- ClinVar RCV001759035
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.32
- MetaLR 0.76
- MetaSVM 0.06
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.025)
- Structural context available