N129D (p.Asn129Asp) variant of CHM (P24386)
N129D (p.Asn129Asp) 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 0.10 / 1. The record also includes population frequency data and structural context.
N129D (p.Asn129Asp) variant details
- p.Asn129Asp
- rs759598256
- ClinGen CA10465582
- ClinVar RCV001074936
- ClinVar RCV005913612
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.02
- MetaLR 0.12
- MetaSVM -1.00
- CADD 9.04
- PolyPhen-2 0.04
- SIFT 0.87
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available