P38L (p.Pro38Leu) variant of CALCB (P10092)
P38L (p.Pro38Leu) in CALCB (P10092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs774903834
- ClinGen CA5897077
- ClinVar RCV004224939
- ExAC rs774903834
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- REVEL 0.06
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.7e-05)
- Structural context available