P10L (p.Pro10Leu) variant of ADCY5 (Adenylate cyclase type 5)
P10L (p.Pro10Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Dyskinesia with orofacial involvement, autosomal recessive; Neurodevelopmental d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs143905423
- ClinGen CA2577748
- ClinVar RCV001521983
- ClinVar RCV002253837
- Benign/Likely benign
- Dyskinesia with orofacial involvement, autosomal recessive; Neurodevelopmental d
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.43
- MetaLR 0.46
- MetaSVM 0.13
- CADD 26.80
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Benign/Likely benign (Dyskinesia with orofacial involvement, autosomal recessive; Neur)
- EBI: Benign (in dbSNP:rs143905423)
- UniProt: Benign (in dbSNP:rs143905423)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: ADCY5 mutations are another cause of benign hereditary chorea. (PMID 26085604)
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)