A21T (p.Ala21Thr) variant of CACNA1A (O00555)
A21T (p.Ala21Thr) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- cosmic curated COSV64215
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.36
- MetaLR 0.78
- MetaSVM 0.13
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available