G17V (p.Gly17Val) variant of FANCA (Fanconi anemia group A protein)
G17V (p.Gly17Val) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- rs1326963514
- ClinGen CA397484476
- ClinVar RCV003477201
- ClinVar RCV005335779
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.17
- AlphaMissense 0.11
- MetaLR 0.22
- MetaSVM -0.72
- CADD 4.95
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- 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)