S149P (p.Ser149Pro) variant of ARNT (P27540)
S149P (p.Ser149Pro) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S149P (p.Ser149Pro) variant details
- p.Ser149Pro
- 1000Genomes rs116774603
- ExAC rs116774603
- TOPMed rs116774603
- gnomAD rs116774603
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available