T64A (p.Thr64Ala) variant of SPTBN2 (O15020)
T64A (p.Thr64Ala) in SPTBN2 (O15020) 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 0.83 / 1. The record also includes population frequency data and structural context.
T64A (p.Thr64Ala) variant details
- p.Thr64Ala
- rs769557138
- ClinGen CA6129743
- ClinVar RCV001354818
- ExAC rs769557138
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.97
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available