Y67S (p.Tyr67Ser) variant of CRX (Cone-rod homeobox protein)
Y67S (p.Tyr67Ser) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y67S (p.Tyr67Ser) variant details
- p.Tyr67Ser
- gnomAD 19-47836342-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.66
- CADD 24.80
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available