T54K (p.Thr54Lys) variant of MYO7A (Unconventional myosin-VIIa)
T54K (p.Thr54Lys) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T54K (p.Thr54Lys) variant details
- p.Thr54Lys
- gnomAD 11-77147826-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.12
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available