Q17R (p.Gln17Arg) variant of CACNA1D (Q01668)
Q17R (p.Gln17Arg) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q17R (p.Gln17Arg) variant details
- p.Gln17Arg
- cosmic curated COSV55463
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.29
- MetaLR 0.72
- MetaSVM 0.13
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available