V43M (p.Val43Met) variant of USH2A (Usherin)
V43M (p.Val43Met) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs147421006
- ClinGen CA1396851
- ClinVar RCV001051408
- ClinVar RCV001277093
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.65
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)