p.Glu36 Cys37insThrAlaHis variant of MYL2 (P10916)
p.Glu36 Cys37insThrAlaHis in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu36 Cys37insThrAlaHis variant details
- rs1566148758
- gnomAD 12-110914309-A-AG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available