T31A (p.Thr31Ala) variant of BAK1 (Q16611)
T31A (p.Thr31Ala) in BAK1 (Q16611) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs1164845782
- ClinGen CA363655243
- ClinVar RCV004423842
- gnomAD rs1164845782
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.07
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available