P33L (p.Pro33Leu) variant of MERTK (Tyrosine-protein kinase Mer)
P33L (p.Pro33Leu) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs144751432
- ClinGen CA1830976
- cosmic curated COSV99775
- ClinVar RCV001059261
- Conflicting interpretations
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -0.98
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00097)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)