N14S (p.Asn14Ser) variant of CRX (Cone-rod homeobox protein)
N14S (p.Asn14Ser) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N14S (p.Asn14Ser) variant details
- p.Asn14Ser
- ExAC rs777613986
- gnomAD rs777613986
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.40
- CADD 22.50
- PolyPhen-2 0.68
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.612