L48P (p.Leu48Pro) variant of CALCB (P10092)
L48P (p.Leu48Pro) in CALCB (P10092) 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 0.44 / 1. The record also includes population frequency data and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- rs1264892328
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10015
- NCI-TCGA Cosmic COSV6083
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.28
- CADD 29.90
- PolyPhen-2 0.95
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available