A33T (p.Ala33Thr) variant of CACNA1A (O00555)
A33T (p.Ala33Thr) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- cosmic curated COSV10466
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.32
- MetaLR 0.85
- MetaSVM 0.34
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available