S9N (p.Ser9Asn) variant of PRKAR1A (P10644)
S9N (p.Ser9Asn) in PRKAR1A (P10644) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CNC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- UniProt VAR 046894
- Pathogenic
- in CNC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Pathogenic (in CNC1)
- UniProt: Pathogenic (in CNC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA… (PMID 18241045)
- Cited in: Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. (PMID 15371594)