P6A (p.Pro6Ala) variant of HBD (Hemoglobin subunit delta)
P6A (p.Pro6Ala) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- rs562543884
- ClinGen CA5840006
- ClinVar RCV004399275
- 1000Genomes rs562543884
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.03
- MetaLR 0.15
- MetaSVM -0.69
- CADD 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available