K41R (p.Lys41Arg) variant of FGFR2 (P21802)
K41R (p.Lys41Arg) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K41R (p.Lys41Arg) variant details
- p.Lys41Arg
- rs2135124493
- ClinGen CA378325670
- ClinVar RCV001839364
- Ensembl rs2135124493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.31
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available