A62T (p.Ala62Thr) variant of RLBP1 (Retinaldehyde-binding protein 1)
A62T (p.Ala62Thr) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- rs1279832933
- ClinGen CA393731091
- ClinVar RCV002701464
- ClinVar RCV004656967
- Uncertain significance
- not specified; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.36
- CADD 21.50
- PolyPhen-2 0.14
- SIFT 0.18
- ClinVar: Uncertain significance (not specified; not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)