P1204T (p.Pro1204Thr) variant of MYO7A (Unconventional myosin-VIIa)
P1204T (p.Pro1204Thr) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Usher syndrome type 1B; Autosomal recessive nonsyndromic hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P1204T (p.Pro1204Thr) variant details
- p.Pro1204Thr
- rs1555090442
- ClinGen CA381947041
- ClinVar RCV000672010
- ClinVar RCV001245615
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome type 1B; Autosomal recessive nonsyndromic hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.99
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome type 1B; Autosomal recessive nonsyn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)