A123V (p.Ala123Val) variant of ARNT (P27540)
A123V (p.Ala123Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- gnomAD rs1660906854
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.50
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)