A123V (p.Ala123Val) variant of CHM (P24386)
A123V (p.Ala123Val) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A123V (p.Ala123Val) variant details
- p.Ala123Val
- rs372532715
- ClinGen CA10465584
- ClinVar RCV001341749
- ClinVar RCV001825872
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.05
- MetaLR 0.14
- MetaSVM -1.00
- CADD 12.20
- PolyPhen-2 0.02
- SIFT 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)