I739T (p.Ile739Thr) variant of OCA2 (P protein)
I739T (p.Ile739Thr) in OCA2 (P protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculocutaneous albinism; not provided; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLU. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I739T (p.Ile739Thr) variant details
- p.Ile739Thr
- rs780628028
- ClinGen CA267859829
- ClinVar RCV003317723
- ClinVar RCV003561291
- Likely pathogenic
- Oculocutaneous albinism; not provided; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLU
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.88
- MetaSVM 0.97
- CADD 24.70
- ClinVar: Likely pathogenic (Oculocutaneous albinism; not provided; SKIN/HAIR/EYE PIGMENTATIO)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)