P25L (p.Pro25Leu) variant of FGFR1 (P11362)
P25L (p.Pro25Leu) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; FGFR1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs149206728
- ClinGen CA175774442
- cosmic curated COSV58328
- NCI-TCGA Cosmic COSV5834
- Uncertain significance
- not provided; FGFR1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (not provided; FGFR1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available