H68R (p.His68Arg) variant of CHD7 (Q9P2D1)
H68R (p.His68Arg) 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 0.36 / 1. The record also includes population frequency data and structural context.
H68R (p.His68Arg) variant details
- p.His68Arg
- rs771073528
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10141
- ExAC rs771073528
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.20
- MetaLR 0.19
- MetaSVM -0.79
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available