L20F (p.Leu20Phe) variant of PRKAR1A (P10644)
L20F (p.Leu20Phe) 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. 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.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- cosmic curated COSV10606
- Uncertain significance
- Carney complex, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (Carney complex, type 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available