P7S (p.Pro7Ser) variant of BACH2 (Q9BYV9)
P7S (p.Pro7Ser) 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 0.29 / 1.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs2127780699
- ClinGen CA365069704
- ClinVar RCV001900185
- Ensembl rs2127780699
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.55
- EVE 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance