A53V (p.Ala53Val) variant of CACNA1A (O00555)
A53V (p.Ala53Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- cosmic curated COSV64201
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.84
- MetaLR 0.94
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available