A106T (p.Ala106Thr) variant of CACNA1A (O00555)
A106T (p.Ala106Thr) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A106T (p.Ala106Thr) variant details
- p.Ala106Thr
- cosmic curated COSV10080
- Ensembl rs960396840
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.84
- CADD 24.60
- PolyPhen-2 0.40
- SIFT 0.04
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available