T35K (p.Thr35Lys) variant of ACVRL1 (Activin receptor type-1-like)
T35K (p.Thr35Lys) in ACVRL1 (Activin receptor type-1-like) 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 0.39 / 1. The record also includes population frequency data and structural context.
T35K (p.Thr35Lys) variant details
- p.Thr35Lys
- NCI-TCGA Cosmic COSV6635
- cosmic curated COSV66359
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.44
- CADD 16.20
- PolyPhen-2 0.54
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available