P6S (p.Pro6Ser) variant of HBB (Hemoglobin subunit beta)
P6S (p.Pro6Ser) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs33912272
- ClinGen CA125420
- cosmic curated COSV10646
- ClinVar RCV000016806
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.37
- MetaSVM -0.71
- CADD 0.45
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Likely benign (in Warwickshire)
- UniProt: Likely benign (in Warwickshire)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: A new beta chain variant, Hb Tyne [beta 5(A2)Pro-->Ser]. (PMID 7852088)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)