M1V (p.Met1Val) variant of USH2A (Usherin)
M1V (p.Met1Val) in USH2A (Usherin) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs924627806
- ClinGen CA37922164
- ClinVar RCV000669526
- ClinVar RCV001101305
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- MetaLR 0.05
- MetaSVM -1.14
- PolyPhen-2 0.49
- SIFT 0.00
- MutPred 0.99
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)