S7N (p.Ser7Asn) variant of TMEM43 (Transmembrane protein 43)
S7N (p.Ser7Asn) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- Ensembl rs1695062554
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.05
- CADD 1.23
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available