P23R (p.Pro23Arg) variant of FGFR1 (P11362)
P23R (p.Pro23Arg) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- ESP rs143341876
- ExAC rs143341876
- TOPMed rs143341876
- gnomAD rs143341876
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.55
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available