G6R (p.Gly6Arg) variant of SMN1 (Survival motor neuron protein)
G6R (p.Gly6Arg) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- gnomAD 5-70049701-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.42
- CADD 22.00
- PolyPhen-2 0.62
- SIFT 0.05
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available