R40K (p.Arg40Lys) variant of G6PC1 (P35575)
R40K (p.Arg40Lys) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- Ensembl rs1373038535
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.32
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available