L15R (p.Leu15Arg) variant of HBB (Hemoglobin subunit beta)
L15R (p.Leu15Arg) 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 provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- rs33935445
- ClinGen CA125172
- ClinVar RCV000016604
- ClinVar RCV000588440
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.88
- MetaSVM 0.91
- CADD 22.60
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Benign (in Soegn)
- UniProt: Benign (in Soegn)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Two families with hemoglobin Sogn, beta(A11)14 Leu----Arg, in Minnesota and Indiana: hematologic, functional, and… (PMID 2366586)
- Cited in: Haemoglobin Sogn (beta 14 arginine) a new haemoglobin variant. (PMID 5710451)