S136R (p.Ser136Arg) variant of BACH2 (Q9BYV9)
S136R (p.Ser136Arg) in BACH2 (Q9BYV9) 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 0.10 / 1. The record also includes population frequency data.
S136R (p.Ser136Arg) variant details
- p.Ser136Arg
- rs2128357100
- ClinGen CA365073093
- ClinVar RCV002035738
- Ensembl rs2128357100
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.11
- CADD 3.35
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)