P10R (p.Pro10Arg) variant of EED (Polycomb protein EED)
P10R (p.Pro10Arg) in EED (Polycomb protein EED) 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 0.39 / 1. The record also includes population frequency data and structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- rs780894846
- NCI-TCGA Cosmic COSV9964
- cosmic curated COSV99646
- ExAC rs780894846
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.13
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available