A3T (p.Ala3Thr) variant of FGFR3 (P22607)
A3T (p.Ala3Thr) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs1259385466
- ClinGen CA355985108
- ClinVar RCV003351904
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.23
- MetaLR 0.25
- MetaSVM -0.83
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)