L32V (p.Leu32Val) variant of HBB (Hemoglobin subunit beta)
L32V (p.Leu32Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN MUSCAT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs33956555
- ClinGen CA125372
- ClinVar RCV000016771
- ExAC rs33956555
- other
- HEMOGLOBIN MUSCAT
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- ESM-1b 1.00
- AlphaMissense 0.36
- ClinVar: other (HEMOGLOBIN MUSCAT)
- UniProt: Other (in Yokohama)
- Structural context available
- Cited in: A new variant, HB Muscat [alpha 2 beta (2)32(B14)Leu----Val] observed in association with HB S in an Arabian family. (PMID 1517102)