M10K (p.Met10Lys) variant of RLBP1 (Retinaldehyde-binding protein 1)
M10K (p.Met10Lys) in RLBP1 (Retinaldehyde-binding protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M10K (p.Met10Lys) variant details
- p.Met10Lys
- rs77384282
- ClinGen CA202707
- ClinVar RCV000178076
- ClinVar RCV000280535
- Conflicting interpretations
- not specified; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Retinitis pigmentosa)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)