V52G (p.Val52Gly) variant of AGTR1 (Type-1 angiotensin II receptor)
V52G (p.Val52Gly) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V52G (p.Val52Gly) variant details
- p.Val52Gly
- rs150629733
- ClinGen CA2657282
- ClinVar RCV002941955
- ClinVar RCV003367909
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.76
- CADD 26.50
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)