M115V (p.Met115Val) variant of ARNT (P27540)
M115V (p.Met115Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
M115V (p.Met115Val) variant details
- p.Met115Val
- ExAC rs749979422
- gnomAD rs749979422
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.89
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)