I131V (p.Ile131Val) variant of ARNT (P27540)
I131V (p.Ile131Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
I131V (p.Ile131Val) variant details
- p.Ile131Val
- ExAC rs761507962
- gnomAD rs761507962
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.69
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.20
- Most common in the South Asian population (allele frequency 4.6e-05)