S2F (p.Ser2Phe) variant of BCL2L1 (Bcl-2-like protein 1)
S2F (p.Ser2Phe) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- gnomAD 20-31722214-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- MetaLR 0.04
- MetaSVM -1.25
- CADD 29.10
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available