S39L (p.Ser39Leu) variant of CHM (P24386)
S39L (p.Ser39Leu) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S39L (p.Ser39Leu) variant details
- p.Ser39Leu
- rs772452707
- ClinGen CA10465669
- cosmic curated COSV10071
- ClinVar RCV001075030
- Uncertain significance
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.30
- MetaLR 0.28
- MetaSVM -0.54
- CADD 24.10
- PolyPhen-2 0.25
- SIFT 0.09
- ClinVar: Uncertain significance (Retinal dystrophy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.4e-05)
- Structural context available