G60V (p.Gly60Val) variant of CNGA1 (P29973)
G60V (p.Gly60Val) in CNGA1 (P29973) 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; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- rs201031527
- ClinGen CA245890
- ClinVar RCV000178710
- ClinVar RCV000344585
- Uncertain significance
- Inborn genetic diseases; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.0749
- REVEL 0.04
- CADD 8.64
- PolyPhen-2 0.28
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Retinitis pigmentosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)