T57M (p.Thr57Met) variant of PDE6B (P35913)
T57M (p.Thr57Met) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa; Congenital stationary night blindness autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T57M (p.Thr57Met) variant details
- p.Thr57Met
- rs149359860
- ClinGen CA2793860
- ClinVar RCV000309731
- ClinVar RCV000362223
- Conflicting interpretations
- not provided; Retinitis pigmentosa; Congenital stationary night blindness autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.18
- MetaLR 0.08
- MetaSVM -1.01
- CADD 1.79
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa; Congenital stationary night)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)