P52P (p.Pro52Pro) variant of HBD (Hemoglobin subunit delta)
P52P (p.Pro52Pro) in HBD (Hemoglobin subunit delta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P52P (p.Pro52Pro) variant details
- p.Pro52Pro
- rs777280570
- gnomAD 11-5234150-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.63
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available