P34L (p.Pro34Leu) variant of MLC1 (Membrane protein MLC1)
P34L (p.Pro34Leu) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs138094311
- ClinGen CA10303682
- cosmic curated COSV10028
- ClinVar RCV002928346
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.85
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)