V30L (p.Val30Leu) variant of CRX (Cone-rod homeobox protein)
V30L (p.Val30Leu) in CRX (Cone-rod homeobox protein) 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.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- gnomAD 19-47834531-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.52
- CADD 22.60
- PolyPhen-2 0.26
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available