P52R (p.Pro52Arg) variant of HBD (Hemoglobin subunit delta)
P52R (p.Pro52Arg) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN A(2) ADRIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- rs34489183
- ClinGen CA124635
- ClinVar RCV000016188
- UniProt VAR 003109
- other
- HEMOGLOBIN A(2) ADRIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.74
- MetaSVM 0.07
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: other (HEMOGLOBIN A(2) ADRIA)
- EBI: Benign (in Adria)
- UniProt: Benign (in Adria)
- Structural context available