H20Q (p.His20Gln) variant of CACNA1D (Q01668)
H20Q (p.His20Gln) 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 0.45 / 1. The record also includes population frequency data and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- rs201981216
- ClinGen CA2453595
- ClinVar RCV003549801
- 1000Genomes rs201981216
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.31
- MetaLR 0.72
- MetaSVM 0.34
- CADD 21.90
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available