A12V (p.Ala12Val) variant of PRKAR1A (P10644)
A12V (p.Ala12Val) in PRKAR1A (P10644) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- TOPMed rs1292133703
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available