M15V (p.Met15Val) variant of FGFR2 (P21802)
M15V (p.Met15Val) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FGFR2-related craniosynostosis; Pfeiffer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M15V (p.Met15Val) variant details
- p.Met15Val
- rs1451094453
- ClinGen CA378328111
- ClinVar RCV003844082
- ClinVar RCV004820959
- Uncertain significance
- FGFR2-related craniosynostosis; Pfeiffer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.32
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.31
- ClinVar: Uncertain significance (FGFR2-related craniosynostosis; Pfeiffer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)