K116R (p.Lys116Arg) variant of GBA1 (P04062)
K116R (p.Lys116Arg) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K116R (p.Lys116Arg) variant details
- p.Lys116Arg
- gnomAD rs1264796336
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.36
- CADD 18.00
- PolyPhen-2 0.16
- SIFT 0.42
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available