V12L (p.Val12Leu) variant of FGFR1 (P11362)
V12L (p.Val12Leu) in FGFR1 (P11362) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- cosmic curated COSV10588
- gnomAD rs1563627828
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 21.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available