I114T (p.Ile114Thr) variant of MYH11 (Myosin-11)
I114T (p.Ile114Thr) in MYH11 (Myosin-11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
I114T (p.Ile114Thr) variant details
- p.Ile114Thr
- Ensembl rs1567211480
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.90
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available