D37N (p.Asp37Asn) variant of NR2E3 (Q9Y5X4)
D37N (p.Asp37Asn) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- gnomAD 15-71810852-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available