N4K (p.Asn4Lys) variant of TMEM43 (Transmembrane protein 43)
N4K (p.Asn4Lys) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- gnomAD rs1235789714
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.07
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available