P6A (p.Pro6Ala) variant of HBB (Hemoglobin subunit beta)
P6A (p.Pro6Ala) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- rs33912272
- ClinGen CA217115556
- ClinVar RCV001812585
- 1000Genomes rs33912272
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.04
- MetaLR 0.20
- MetaSVM -0.81
- CADD 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in Warwickshire)
- UniProt: Likely benign (in Warwickshire)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available