D40N (p.Asp40Asn) variant of BCL2L2 (Bcl-2-like protein 2)
D40N (p.Asp40Asn) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- gnomAD 14-23307885-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.04
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available