T40S (p.Thr40Ser) variant of PRKAR1A (P10644)
T40S (p.Thr40Ser) in PRKAR1A (P10644) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carney complex, type 1. 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.
T40S (p.Thr40Ser) variant details
- p.Thr40Ser
- Ensembl rs2085405205
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 21.80
- PolyPhen-2 0.10
- SIFT 0.07
- ClinVar: Uncertain significance (Carney complex, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available