L81V (p.Leu81Val) variant of ANKRD1 (Q15327)
L81V (p.Leu81Val) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L81V (p.Leu81Val) variant details
- p.Leu81Val
- gnomAD rs1428027802
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.14
- CADD 26.30
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available