S22L (p.Ser22Leu) variant of FGFR3 (P22607)
S22L (p.Ser22Leu) 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; FGFR3-related chondrodysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- rs2546775728
- ClinGen CA355985806
- ClinVar RCV004394139
- Uncertain significance
- Inborn genetic diseases; FGFR3-related chondrodysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.86
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases; FGFR3-related chondrodysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- 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)