A20P (p.Ala20Pro) variant of FGFR3 (P22607)
A20P (p.Ala20Pro) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- Ensembl rs2108752148
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.30
- MetaLR 0.20
- MetaSVM -0.93
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available