Y72Y (p.Tyr72Tyr) variant of CHD7 (Q9P2D1)

Name: CHD7 Y72Y (p.Tyr72Tyr) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

Y72Y (p.Tyr72Tyr) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.

Y72Y (p.Tyr72Tyr) variant details

p.Tyr72Tyr
rs16926453
gnomAD 8-60741648-T-C
Synonymous
Variant Prioritization Score for Impact Estimate 0.355
CADD 9.09
Most common in the HGDP:LAHU population (allele frequency 0.2)
Structural context available
Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
Cited in: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR… (PMID 23757202)