P8A (p.Pro8Ala) variant of ARNT (P27540)
P8A (p.Pro8Ala) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- gnomAD rs1303125672
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.96
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.5e-05)