S6C (p.Ser6Cys) variant of BCL2L11 (Bcl-2-like protein 11)
S6C (p.Ser6Cys) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- gnomAD 2-111123762-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.32
- MetaLR 0.26
- MetaSVM -0.51
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available
- Literature evidence available