A27V (p.Ala27Val) variant of HBA1 (Hemoglobin subunit alpha)
A27V (p.Ala27Val) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in Campinas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs281864822
- ClinGen CA125620
- ClinVar RCV000016952
- ClinVar RCV006258926
- Benign
- in Campinas
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.61
- AlphaMissense 0.43
- MetaLR 0.59
- MetaSVM -0.17
- CADD 19.60
- PolyPhen-2 0.19
- EBI: Benign (in Campinas)
- UniProt: Benign (in Campinas)
- Most common in the 1KG:PUR population (allele frequency 0.0075)
- Structural context available
- Cited in: Hb Campinas [alpha26(B7)Ala -->Val]: a novel, electrophoretically silent, variant. (PMID 10870886)
- Cited in: Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism. (PMID 14576901)