A29T (p.Ala29Thr) variant of DYSF (Dysferlin)
A29T (p.Ala29Thr) in DYSF (Dysferlin) 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 0.74 / 1. The record also includes population frequency data and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- NCI-TCGA Cosmic COSV9924
- cosmic curated COSV99249
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 23.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available