D52V (p.Asp52Val) variant of ARNT (P27540)
D52V (p.Asp52Val) in ARNT (P27540) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D52V (p.Asp52Val) variant details
- p.Asp52Val
- cosmic curated COSV10059
- TOPMed rs1663869446
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.12
- CADD 24.80
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available