A138T (p.Ala138Thr) variant of DNAH5 (Dynein axonemal heavy chain 5)
A138T (p.Ala138Thr) in DNAH5 (Dynein axonemal heavy chain 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A138T (p.Ala138Thr) variant details
- p.Ala138Thr
- rs1198674256
- NCI-TCGA Cosmic COSV5422
- gnomAD rs1198674256
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.05
- CADD 21.30
- PolyPhen-2 0.10
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available