S49G (p.Ser49Gly) variant of CRX (Cone-rod homeobox protein)
S49G (p.Ser49Gly) 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 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S49G (p.Ser49Gly) variant details
- p.Ser49Gly
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99704
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.125