E16K (p.Glu16Lys) variant of SMN1 (Survival motor neuron protein)
E16K (p.Glu16Lys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- gnomAD 5-70049731-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.47
- CADD 25.90
- PolyPhen-2 0.87
- SIFT 0.02
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Literature evidence available