S82N (p.Ser82Asn) variant of ARNT (P27540)
S82N (p.Ser82Asn) 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.
S82N (p.Ser82Asn) variant details
- p.Ser82Asn
- gnomAD rs943817666
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.18
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)