N105S (p.Asn105Ser) variant of INSR (Insulin receptor)
N105S (p.Asn105Ser) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
N105S (p.Asn105Ser) variant details
- p.Asn105Ser
- TOPMed rs1967781164
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.85
- MetaLR 0.75
- MetaSVM 0.68
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available