S3C (p.Ser3Cys) variant of PRKAR1A (P10644)
S3C (p.Ser3Cys) in PRKAR1A (P10644) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- ExAC rs752643409
- TOPMed rs752643409
- gnomAD rs752643409
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM 0.51
- CADD 22.80
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available