A27T (p.Ala27Thr) variant of CACNA1D (Q01668)
A27T (p.Ala27Thr) in CACNA1D (Q01668) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- Ensembl rs1163489244
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.44
- MetaLR 0.90
- MetaSVM 0.65
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available