M38I (p.Met38Ile) variant of BAX (Apoptosis regulator BAX)
M38I (p.Met38Ile) in BAX (Apoptosis regulator BAX) 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 0.35 / 1. The record also includes population frequency data and structural context.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- rs141306106
- ClinGen CA9562163
- cosmic curated COSV10735
- ClinVar RCV004425912
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.09
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available