M14L (p.Met14Leu) variant of LCK (Tyrosine-protein kinase Lck)
M14L (p.Met14Leu) in LCK (Tyrosine-protein kinase Lck) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M14L (p.Met14Leu) variant details
- p.Met14Leu
- ExAC rs780185907
- gnomAD rs780185907
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.165