S51R (p.Ser51Arg) variant of CHM (P24386)
S51R (p.Ser51Arg) 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 0.54 / 1. The record also includes population frequency data and structural context.
S51R (p.Ser51Arg) variant details
- p.Ser51Arg
- rs1479916294
- ClinGen CA413788312
- ClinVar RCV001338280
- gnomAD rs1479916294
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.62
- MetaLR 0.67
- MetaSVM 0.15
- CADD 24.10
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available