A7S (p.Ala7Ser) variant of FGFR3 (P22607)
A7S (p.Ala7Ser) in FGFR3 (P22607) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 4-1793953-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.19
- MetaLR 0.24
- MetaSVM -0.88
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available