L27V (p.Leu27Val) variant of FGFR2 (P21802)
L27V (p.Leu27Val) in FGFR2 (P21802) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD rs1294518519
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.37
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.26
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available