P52S (p.Pro52Ser) variant of HBD (Hemoglobin subunit delta)
P52S (p.Pro52Ser) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in Adria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- rs1160528495
- NCI-TCGA Cosmic COSV5308
- cosmic curated COSV53082
- gnomAD rs1160528495
- Variant assessed as somatic; moderate impact.
- in Adria
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.42
- ESM-1b 0.41
- AlphaMissense 0.12
- MetaLR 0.56
- MetaSVM -0.52
- CADD 0.33
- UniProt: Variant assessed as somatic; moderate impact. (in Adria)
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available