A68T (p.Ala68Thr) variant of CRX (Cone-rod homeobox protein)
A68T (p.Ala68Thr) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- Ensembl rs1968117786
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.49
- CADD 24.70
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available