F12S (p.Phe12Ser) variant of CNGA1 (P29973)
F12S (p.Phe12Ser) 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; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
F12S (p.Phe12Ser) variant details
- p.Phe12Ser
- rs981071919
- ClinGen CA96700302
- ClinVar RCV001145411
- ClinVar RCV004978053
- Uncertain significance
- Inborn genetic diseases; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.18
- SIFT 0.21
- MutPred 0.61
- ClinVar: Uncertain significance (Inborn genetic diseases; Retinitis pigmentosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)