A6S (p.Ala6Ser) variant of MYL2 (P10916)
A6S (p.Ala6Ser) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- Ensembl rs905741278
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.36
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available