P30T (p.Pro30Thr) variant of BCL2L11 (Bcl-2-like protein 11)
P30T (p.Pro30Thr) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- gnomAD 2-111123833-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.13
- MetaLR 0.06
- MetaSVM -0.99
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available