T38N (p.Thr38Asn) variant of CTNNA1 (Catenin alpha-1)
T38N (p.Thr38Asn) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- rs754397589
- ClinGen CA3431362
- ClinVar RCV001989175
- ExAC rs754397589
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.97
- MetaLR 0.23
- MetaSVM -0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available