M36I (p.Met36Ile) variant of MYL2 (P10916)
M36I (p.Met36Ile) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M36I (p.Met36Ile) variant details
- p.Met36Ile
- gnomAD rs2071684316
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.29
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available