A11V (p.Ala11Val) variant of FGFR1 (P11362)
A11V (p.Ala11Val) in FGFR1 (P11362) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- ExAC rs762020019
- gnomAD rs762020019
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.43
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.93
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available