L34R (p.Leu34Arg) variant of GNAT1 (P11488)
L34R (p.Leu34Arg) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L34R (p.Leu34Arg) variant details
- p.Leu34Arg
- gnomAD 3-50191826-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.90
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available