T88S (p.Thr88Ser) variant of MYLK (Q15746)
T88S (p.Thr88Ser) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T88S (p.Thr88Ser) variant details
- p.Thr88Ser
- rs1285946380
- ClinGen CA354244635
- ClinVar RCV000809937
- ClinVar RCV002495115
- Uncertain significance
- Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperis
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.08
- CADD 8.96
- PolyPhen-2 0.31
- SIFT 0.20
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-inte)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)