D43N (p.Asp43Asn) variant of RRAD (GTP-binding protein RAD)
D43N (p.Asp43Asn) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- TOPMed rs1480747531
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available