P8A (p.Pro8Ala) variant of SH2B3 (SH2B adapter protein 3)
P8A (p.Pro8Ala) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- rs1476262682
- gnomAD 12-111418164-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 23.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available