V12M (p.Val12Met) variant of FGFR1 (P11362)
V12M (p.Val12Met) in FGFR1 (P11362) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V12M (p.Val12Met) variant details
- p.Val12Met
- rs1563627828
- gnomAD rs1563627828
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.39
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available