A4S (p.Ala4Ser) variant of BCL2 (Apoptosis regulator Bcl-2)
A4S (p.Ala4Ser) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- cosmic curated COSV10520
- ExAC rs768498963
- gnomAD rs768498963
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.08
- CADD 21.90
- PolyPhen-2 0.39
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available