D48N (p.Asp48Asn) variant of ARNT (P27540)
D48N (p.Asp48Asn) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- cosmic curated COSV62232
- ExAC rs771835083
- gnomAD rs771835083
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.13
- CADD 26.10
- PolyPhen-2 0.73
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)