D50N (p.Asp50Asn) variant of ARNT (P27540)
D50N (p.Asp50Asn) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- gnomAD rs1663869986
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.15
- CADD 32.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available