P10L (p.Pro10Leu) variant of TMEM127 (Transmembrane protein 127)
P10L (p.Pro10Leu) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- cosmic curated COSV10506
- Uncertain significance
- Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.40
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Pheochromocytoma)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.1e-05)
- Structural context available