N147S (p.Asn147Ser) variant of ARNT (P27540)
N147S (p.Asn147Ser) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
N147S (p.Asn147Ser) variant details
- p.Asn147Ser
- ExAC rs751934130
- TOPMed rs751934130
- gnomAD rs751934130
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 6e-05)