S18F (p.Ser18Phe) variant of BCL2L1 (Bcl-2-like protein 1)
S18F (p.Ser18Phe) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- cosmic curated COSV56966
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.38
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available