A100S (p.Ala100Ser) variant of MYH7 (Myosin-7)
A100S (p.Ala100Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A100S (p.Ala100Ser) variant details
- p.Ala100Ser
- rs730880154
- NCI-TCGA Cosmic COSV6252
- 1000Genomes rs730880154
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.37
- MetaSVM -0.57
- CADD 24.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available