M134L (p.Met134Leu) variant of ARNT (P27540)
M134L (p.Met134Leu) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
M134L (p.Met134Leu) variant details
- p.Met134Leu
- gnomAD rs1660901060
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.80
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)