A121V (p.Ala121Val) variant of ARNT (P27540)
A121V (p.Ala121Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
A121V (p.Ala121Val) variant details
- p.Ala121Val
- gnomAD rs1252013102
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.52
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)