P194S (p.Pro194Ser) variant of MYO7A (Unconventional myosin-VIIa)
P194S (p.Pro194Ser) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The record also includes structural context.
P194S (p.Pro194Ser) variant details
- p.Pro194Ser
- rs2496745583
- ClinGen CA381931972
- ClinVar RCV003484466
- NCI-TCGA Cosmic COSV6868
- Likely pathogenic
- Auditory neuropathy
- Missense
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available