T127A (p.Thr127Ala) variant of CACNA1A (O00555)
T127A (p.Thr127Ala) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Inborn g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
T127A (p.Thr127Ala) variant details
- p.Thr127Ala
- rs2144947148
- ClinGen CA404967779
- ClinVar RCV001927247
- ClinVar RCV005792196
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.91
- MetaLR 0.36
- MetaSVM -0.26
- PolyPhen-2 0.99
- SIFT 0.05
- MutPred 0.31
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)