A10P (p.Ala10Pro) variant of CRBN (Protein cereblon)
A10P (p.Ala10Pro) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- rs768452189
- NCI-TCGA Cosmic COSV9921
- cosmic curated COSV99214
- ExAC rs768452189
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.14)
- Structural context available