P4P (p.Pro4Pro) variant of SH2B3 (SH2B adapter protein 3)
P4P (p.Pro4Pro) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P4P (p.Pro4Pro) variant details
- p.Pro4Pro
- rs371451229
- gnomAD 12-111418157-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 6.57
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available