P15L (p.Pro15Leu) variant of OCA2 (P protein)
P15L (p.Pro15Leu) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs201291702
- ClinGen CA7439608
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.59
- CADD 3.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available