S49N (p.Ser49Asn) variant of MYH11 (Myosin-11)
S49N (p.Ser49Asn) in MYH11 (Myosin-11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- gnomAD rs1471463253
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.44
- CADD 24.60
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available