P30P (p.Pro30Pro) variant of CHD7 (Q9P2D1)
P30P (p.Pro30Pro) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P30P (p.Pro30Pro) variant details
- p.Pro30Pro
- rs374464240
- gnomAD 8-60741522-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.77
- Most common in the HGDP:YAKUT population (allele frequency 0.12)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.381
- Literature evidence available