K90T (p.Lys90Thr) variant of OCA2 (P protein)
K90T (p.Lys90Thr) in OCA2 (P protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K90T (p.Lys90Thr) variant details
- p.Lys90Thr
- gnomAD rs1168047336
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM -0.07
- CADD 17.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available