A147V (p.Ala147Val) variant of BACH2 (Q9BYV9)
A147V (p.Ala147Val) in BACH2 (Q9BYV9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
A147V (p.Ala147Val) variant details
- p.Ala147Val
- cosmic curated COSV57601
- gnomAD rs1393834853
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.08
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)