S6A (p.Ser6Ala) variant of BCL2L11 (Bcl-2-like protein 11)
S6A (p.Ser6Ala) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- gnomAD 2-111123761-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.48
- MetaLR 0.24
- MetaSVM -0.53
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available