P21H (p.Pro21His) variant of MYLK (Q15746)
P21H (p.Pro21His) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection; not specified; Aortic a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- rs28497577
- ClinGen CA073389
- cosmic curated COSV60607
- ClinVar RCV000222218
- Benign/Likely benign
- Familial thoracic aortic aneurysm and aortic dissection; not specified; Aortic a
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.12
- CADD 7.56
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Benign/Likely benign (Familial thoracic aortic aneurysm and aortic dissection; not spe)
- EBI: Benign (in dbSNP:rs28497577)
- UniProt: Benign (in dbSNP:rs28497577)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- 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)