S14T (p.Ser14Thr) variant of PRKAR1A (P10644)
S14T (p.Ser14Thr) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Carney complex, type 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S14T (p.Ser14Thr) variant details
- p.Ser14Thr
- gnomAD rs757185291
- Uncertain significance
- Carney complex, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Carney complex, type 1; Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available