P22L (p.Pro22Leu) variant of CASR (P41180)
P22L (p.Pro22Leu) in CASR (P41180) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- NCI-TCGA Cosmic COSV5614
- cosmic curated COSV56140
- gnomAD rs2074529001
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 24.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available