D101N (p.Asp101Asn) variant of INSR (Insulin receptor)
D101N (p.Asp101Asn) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D101N (p.Asp101Asn) variant details
- p.Asp101Asn
- ESP rs373196983
- ExAC rs373196983
- TOPMed rs373196983
- gnomAD rs373196983
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.29
- MetaLR 0.40
- MetaSVM -0.42
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available