G75S (p.Gly75Ser) variant of MYL2 (P10916)
G75S (p.Gly75Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
G75S (p.Gly75Ser) variant details
- p.Gly75Ser
- gnomAD rs1309076129
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.78
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available