N25S (p.Asn25Ser) variant of ARNT (P27540)
N25S (p.Asn25Ser) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
N25S (p.Asn25Ser) variant details
- p.Asn25Ser
- ExAC rs759809720
- TOPMed rs759809720
- gnomAD rs759809720
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.12
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the African/African-American population (allele frequency 2.4e-05)