G30R (p.Gly30Arg) variant of CACNA1B (Q00975)
G30R (p.Gly30Arg) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G30R (p.Gly30Arg) variant details
- p.Gly30Arg
- gnomAD 9-137878021-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.38
- MetaLR 0.83
- MetaSVM 0.60
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available