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 0.43 / 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 0.43
- REVEL 0.24
- CADD 17.00
- PolyPhen-2 0.21
- SIFT 0.95
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available