P15R (p.Pro15Arg) variant of FGFR4 (P22455)
P15R (p.Pro15Arg) in FGFR4 (P22455) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- rs747930223
- ClinGen CA3575789
- ClinVar RCV004278437
- ExAC rs747930223
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.22
- CADD 9.14
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available