H20R (p.His20Arg) variant of BCL2 (Apoptosis regulator Bcl-2)
H20R (p.His20Arg) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H20R (p.His20Arg) variant details
- p.His20Arg
- cosmic curated COSV10520
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -1.00
- CADD 23.50
- PolyPhen-2 0.78
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available