N53S (p.Asn53Ser) variant of TMEM43 (Transmembrane protein 43)
N53S (p.Asn53Ser) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- gnomAD 3-14129557-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.56
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available