S49N (p.Ser49Asn) variant of BCL2L1 (Bcl-2-like protein 1)
S49N (p.Ser49Asn) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- TOPMed rs2061644325
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available