A20D (p.Ala20Asp) variant of FGFR3 (P22607)
A20D (p.Ala20Asp) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 4-1793993-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.28
- MetaLR 0.22
- MetaSVM -0.93
- CADD 8.25
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available