P39R (p.Pro39Arg) variant of BCL2 (Apoptosis regulator Bcl-2)
P39R (p.Pro39Arg) in BCL2 (Apoptosis regulator Bcl-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- rs1914828360
- gnomAD 18-63158080-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0487
- CADD 0.22
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available