E68K (p.Glu68Lys) variant of NPPA (Natriuretic peptides A)
E68K (p.Glu68Lys) in NPPA (Natriuretic peptides A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- Ensembl rs1645076343
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.18
- CADD 18.90
- PolyPhen-2 0.21
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available