I108N (p.Ile108Asn) variant of DNAH5 (Dynein axonemal heavy chain 5)
I108N (p.Ile108Asn) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I108N (p.Ile108Asn) variant details
- p.Ile108Asn
- gnomAD rs1777512314
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.99
- CADD 12.00
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available