A110T (p.Ala110Thr) variant of MYH6 (Myosin-6)
A110T (p.Ala110Thr) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A110T (p.Ala110Thr) variant details
- p.Ala110Thr
- rs397516760
- ClinGen CA134316
- NCI-TCGA Cosmic COSV6245
- cosmic curated COSV62452
- Uncertain significance
- not specified; not provided; Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.38
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not specified; not provided; Hypertrophic cardiomyopathy 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)