P21S (p.Pro21Ser) variant of MYLK (Q15746)
P21S (p.Pro21Ser) in MYLK (Q15746) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- cosmic curated COSV10466
- gnomAD rs199706302
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- CADD 8.19
- PolyPhen-2 0.29
- SIFT 0.48
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance (in dbSNP:rs28497577)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available