G50V (p.Gly50Val) variant of BCL2L11 (Bcl-2-like protein 11)
G50V (p.Gly50Val) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD 2-111123894-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.95
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available