R6G (p.Arg6Gly) variant of FGFR2 (P21802)
R6G (p.Arg6Gly) in FGFR2 (P21802) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- 1000Genomes rs141724446
- ESP rs141724446
- ExAC rs141724446
- TOPMed rs141724446
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.39
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.33
- EBI: Likely benign (in dbSNP:rs3750819)
- UniProt: Likely benign (in dbSNP:rs3750819)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available