L10I (p.Leu10Ile) variant of FGFR3 (P22607)
L10I (p.Leu10Ile) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- gnomAD 4-1793962-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.07
- MetaLR 0.23
- MetaSVM -0.93
- CADD 6.44
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Literature evidence available