Q11P (p.Gln11Pro) variant of CACNA1D (Q01668)
Q11P (p.Gln11Pro) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q11P (p.Gln11Pro) variant details
- p.Gln11Pro
- gnomAD 3-53495198-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.23
- MetaLR 0.68
- MetaSVM -0.09
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available