D130N (p.Asp130Asn) variant of RINL (Q6ZS11)
D130N (p.Asp130Asn) in RINL (Q6ZS11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
D130N (p.Asp130Asn) variant details
- p.Asp130Asn
- ExAC rs761218583
- TOPMed rs761218583
- gnomAD rs761218583
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available