N35K (p.Asn35Lys) variant of CHD7 (Q9P2D1)
N35K (p.Asn35Lys) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N35K (p.Asn35Lys) variant details
- p.Asn35Lys
- TOPMed rs1809009237
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -0.95
- CADD 15.10
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.593