Q16R (p.Gln16Arg) variant of CACNA1D (Q01668)
Q16R (p.Gln16Arg) in CACNA1D (Q01668) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- rs760088044
- ClinGen CA2453593
- ClinVar RCV001768509
- ExAC rs760088044
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.18
- MetaLR 0.68
- MetaSVM 0.08
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available