T52N (p.Thr52Asn) variant of MYL2 (P10916)
T52N (p.Thr52Asn) in MYL2 (P10916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T52N (p.Thr52Asn) variant details
- p.Thr52Asn
- TOPMed rs1433279087
- gnomAD rs1433279087
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.51
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00079)
- Structural context available