N43S (p.Asn43Ser) variant of INSR (Insulin receptor)
N43S (p.Asn43Ser) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- ESP rs144718517
- ExAC rs144718517
- TOPMed rs144718517
- gnomAD rs144718517
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.19
- MetaLR 0.28
- MetaSVM -0.70
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available