P45S (p.Pro45Ser) variant of PRRT2 (Q7Z6L0)
P45S (p.Pro45Ser) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Episodic kinesigenic dyskinesia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- rs11556732
- ClinGen CA317009
- ClinVar RCV000188757
- ClinVar RCV000514138
- Conflicting interpretations
- Inborn genetic diseases; Episodic kinesigenic dyskinesia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.12
- CADD 23.10
- PolyPhen-2 0.66
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Episodic kinesigenic dyskinesia; not sp)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)