V13A (p.Val13Ala) variant of MITF (O75030)
V13A (p.Val13Ala) in MITF (O75030) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tietz syndrome; Melanoma, cutaneous malignant, susceptibility to, 8; Waardenburg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- cosmic curated COSV10590
- ExAC rs780389752
- TOPMed rs780389752
- gnomAD rs780389752
- Uncertain significance
- Tietz syndrome; Melanoma, cutaneous malignant, susceptibility to, 8; Waardenburg
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.15
- CADD 24.80
- PolyPhen-2 0.13
- SIFT 0.05
- ClinVar: Uncertain significance (Tietz syndrome; Melanoma, cutaneous malignant, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available