Q41K (p.Gln41Lys) variant of FGFR4 (P22455)
Q41K (p.Gln41Lys) in FGFR4 (P22455) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q41K (p.Gln41Lys) variant details
- p.Gln41Lys
- rs2149730689
- ClinGen CA362285724
- ClinVar RCV004394143
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available