P57P (p.Pro57Pro) variant of CHD7 (Q9P2D1)
P57P (p.Pro57Pro) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P57P (p.Pro57Pro) variant details
- p.Pro57Pro
- rs1196290112
- gnomAD 8-60741603-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available