D10G (p.Asp10Gly) variant of CHM (P24386)
D10G (p.Asp10Gly) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D10G (p.Asp10Gly) variant details
- p.Asp10Gly
- rs138374611
- ClinGen CA10465687
- ClinVar RCV001277507
- ClinVar RCV001519837
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.94
- MetaLR 0.86
- MetaSVM 0.96
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0025)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)
- Cited in: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)