L72P (p.Leu72Pro) variant of CASQ2 (Calsequestrin-2)
L72P (p.Leu72Pro) in CASQ2 (Calsequestrin-2) 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 0.41 / 1. The record also includes population frequency data and structural context.
L72P (p.Leu72Pro) variant details
- p.Leu72Pro
- NCI-TCGA Cosmic COSV5477
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.29
- MetaLR 0.15
- MetaSVM -0.87
- CADD 27.10
- PolyPhen-2 0.90
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available