P30S (p.Pro30Ser) variant of BCL2L11 (Bcl-2-like protein 11)
P30S (p.Pro30Ser) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- TOPMed rs1195836135
- gnomAD rs1195836135
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.00
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available