L25V (p.Leu25Val) variant of FGFR3 (P22607)
L25V (p.Leu25Val) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- gnomAD 4-1794007-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.12
- MetaLR 0.27
- MetaSVM -0.77
- CADD 4.88
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available