P24A (p.Pro24Ala) variant of MYH11 (Myosin-11)
P24A (p.Pro24Ala) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- rs752441599
- ClinGen CA7923124
- ClinVar RCV000700231
- ClinVar RCV002360794
- Uncertain significance
- Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.45
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megac)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)