R20L (p.Arg20Leu) variant of CACNA1B (Q00975)
R20L (p.Arg20Leu) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- cosmic curated COSV53139
- TOPMed rs1956856949
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- MetaLR 0.64
- MetaSVM 0.28
- CADD 20.90
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available