K42N (p.Lys42Asn) variant of ACVRL1 (Activin receptor type-1-like)
K42N (p.Lys42Asn) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K42N (p.Lys42Asn) variant details
- p.Lys42Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.19
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.57
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available