A72V (p.Ala72Val) variant of RLBP1 (Retinaldehyde-binding protein 1)
A72V (p.Ala72Val) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- rs772539351
- ClinGen CA7722356
- ClinVar RCV001364448
- ClinVar RCV005271208
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.16
- CADD 8.28
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)