P7S (p.Pro7Ser) variant of NFE2L2 (Q16236)
P7S (p.Pro7Ser) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- TOPMed rs1182238326
- gnomAD rs1182238326
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.11
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.3e-05)