S28A (p.Ser28Ala) variant of CHM (P24386)
S28A (p.Ser28Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S28A (p.Ser28Ala) variant details
- p.Ser28Ala
- rs184699911
- ClinGen CA10465671
- ClinVar RCV003890491
- 1000Genomes rs184699911
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.30
- MetaLR 0.56
- MetaSVM -0.26
- CADD 17.10
- PolyPhen-2 0.16
- SIFT 0.41
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0068)
- Structural context available