S17L (p.Ser17Leu) variant of CRB1 (Protein crumbs homolog 1)
S17L (p.Ser17Leu) in CRB1 (Protein crumbs homolog 1) 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 0.24 / 1. The record also includes population frequency data and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- NCI-TCGA Cosmic COSV6633
- cosmic curated COSV66336
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.14
- MetaLR 0.44
- MetaSVM -0.70
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available