S7L (p.Ser7Leu) variant of CHM (P24386)
S7L (p.Ser7Leu) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- rs1357495676
- ClinGen CA413788691
- NCI-TCGA Cosmic COSV6256
- cosmic curated COSV62564
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.46
- AlphaMissense 0.16
- MetaLR 0.58
- MetaSVM 0.15
- CADD 23.40
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available