K60E (p.Lys60Glu) variant of CRX (Cone-rod homeobox protein)
K60E (p.Lys60Glu) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
K60E (p.Lys60Glu) variant details
- p.Lys60Glu
- ESP rs370973957
- ExAC rs370973957
- gnomAD rs370973957
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.73
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available