R20G (p.Arg20Gly) variant of CACNA1B (Q00975)
R20G (p.Arg20Gly) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- TOPMed rs1335294905
- gnomAD rs1335294905
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- MetaLR 0.43
- MetaSVM -0.63
- CADD 20.40
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available