A35T (p.Ala35Thr) variant of CRX (Cone-rod homeobox protein)
A35T (p.Ala35Thr) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- rs778203784
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99704
- ExAC rs778203784
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.28
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.869