A7V (p.Ala7Val) variant of FGFR3 (P22607)
A7V (p.Ala7Val) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- cosmic curated COSV10502
- 1000Genomes rs2108751877
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.16
- MetaLR 0.24
- MetaSVM -0.88
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available