A102T (p.Ala102Thr) variant of ADCY5 (Adenylate cyclase type 5)
A102T (p.Ala102Thr) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Dyskinesia with orofacial involvement, au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A102T (p.Ala102Thr) variant details
- p.Ala102Thr
- rs548282891
- ClinGen CA2577700
- ClinVar RCV000428751
- ClinVar RCV000765702
- Conflicting interpretations
- Inborn genetic diseases; not provided; Dyskinesia with orofacial involvement, au
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.21
- MetaLR 0.28
- MetaSVM -0.71
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Dyskinesia with orofacial)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAYA population (allele frequency 0.053)
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)