N6S (p.Asn6Ser) variant of CRX (Cone-rod homeobox protein)
N6S (p.Asn6Ser) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- gnomAD rs1230960052
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.37
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.134