D3G (p.Asp3Gly) variant of CHM (P24386)
D3G (p.Asp3Gly) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D3G (p.Asp3Gly) variant details
- p.Asp3Gly
- rs149255670
- ClinGen CA10465693
- ClinVar RCV000874935
- ClinVar RCV001277509
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.22
- MetaLR 0.64
- MetaSVM -0.08
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00043)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)