V38L (p.Val38Leu) variant of FGFR1 (P11362)
V38L (p.Val38Leu) in FGFR1 (P11362) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- ESP rs377555354
- ExAC rs377555354
- TOPMed rs377555354
- gnomAD rs377555354
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.11
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available