K26Q (p.Lys26Gln) variant of NR2E3 (Q9Y5X4)
K26Q (p.Lys26Gln) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K26Q (p.Lys26Gln) variant details
- p.Lys26Gln
- rs373237215
- ClinGen CA7640185
- ClinVar RCV000915773
- ClinVar RCV001275590
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 18.40
- PolyPhen-2 0.09
- SIFT 0.10
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available