L82P (p.Leu82Pro) variant of CHD7 (Q9P2D1)
L82P (p.Leu82Pro) in CHD7 (Q9P2D1) 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 0.35 / 1. The record also includes population frequency data and structural context.
L82P (p.Leu82Pro) variant details
- p.Leu82Pro
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10141
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.22
- MetaLR 0.12
- MetaSVM -0.98
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available