P41L (p.Pro41Leu) variant of PDE6B (P35913)
P41L (p.Pro41Leu) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- rs1231216242
- ClinGen CA355906208
- cosmic curated COSV10960
- ClinVar RCV003181448
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0916
- REVEL 0.06
- MetaLR 0.13
- MetaSVM -1.01
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)