P86T (p.Pro86Thr) variant of MMUT (P22033)
P86T (p.Pro86Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P86T (p.Pro86Thr) variant details
- p.Pro86Thr
- rs772660572
- ClinGen CA364405168
- ClinVar RCV003730978
- ExAC rs772660572
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available